Canonical Allele Identifier: CA351151849

Gene: DIS3L2

Linked Data

• ClinVar Variation Id: 1005520
• ClinVar RCV Id: RCV001302404
• dbSNP Id: rs1694328798
• MyVariant Identifiers: chr2:g.232880245C>G (hg19) ; chr2:g.232015535C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232015535C>G , CM000664.2:g.232015535C>G	GRCh38
NC_000002.11:g.232880245C>G , CM000664.1:g.232880245C>G	GRCh37
NC_000002.10:g.232588489C>G	NCBI36
NG_032572.1:g.58953C>G , LRG_534:g.58953C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325385.12:c.74C>G MANE Select	ENSP00000315569.7:p.Pro25Arg
ENST00000273009.10:c.74C>G	ENSP00000273009.6:p.Pro25Arg
ENST00000325385.11:c.74C>G	ENSP00000315569.7:p.Pro25Arg
ENST00000390005.9:c.74C>G	ENSP00000374655.5:p.Pro25Arg
ENST00000409307.5:c.74C>G	ENSP00000386799.1:p.Pro25Arg
ENST00000409401.7:c.74C>G	ENSP00000386594.3:p.Pro25Arg
ENST00000433430.5:c.74C>G	ENSP00000391175.1:p.Pro25Arg
ENST00000441279.5:c.74C>G	ENSP00000390467.1:p.Pro25Arg
ENST00000445090.5:c.74C>G	ENSP00000388999.1:p.Pro25Arg
NM_001257281.1:c.74C>G	NP_001244210.1:p.Pro25Arg
NM_001257282.1:c.74C>G	NP_001244211.1:p.Pro25Arg
NM_152383.4:c.74C>G , LRG_534t1:c.74C>G	NP_689596.4:p.Pro25Arg
NR_046476.1:n.350C>G
NR_046477.1:n.350C>G
NM_001257281.2:c.74C>G	NP_001244210.1:p.Pro25Arg
NM_152383.5:c.74C>G MANE Select	NP_689596.4:p.Pro25Arg
NR_046476.2:n.220C>G
NR_046477.2:n.220C>G
NM_001257282.2:c.74C>G	NP_001244211.1:p.Pro25Arg